VAIHS
MCID: VSC058
MIFTS: 38

Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome (VAIHS)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

MalaCards integrated aliases for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

Name: Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 58
Polyarteritis Nodosa, Childhood-Onset 58 54 41
Adenosine Deaminase 2 Deficiency 58 54 26
Ada2 Deficiency 54 26 76
Dada2 58 54 26
Pan 58 77 76
Childhood-Onset Polyarteritis Nodosa 54 26
Vasculitis Due to Ada2 Deficiency 54 60
Vasculitis Due to Dada2 54 60
Polyarteritis Nodosa, Childhood-Onset; Pan 58
Adenosine Deaminase 2 Deficiency; Dada2 58
Polyarteritis Nodosa 76
Periarteritis Nodosa 76
Deficiency of Ada2 26
Sneddon Syndrome 26
Vaihs 58

Characteristics:

Orphanet epidemiological data:

60
vasculitis due to ada2 deficiency
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
variable manifestations
variable age at onset, usually in first decade, but can occur later


HPO:

33
vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

OMIM : 58 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits (summary by Zhou et al., 2014 and Navon Elkan et al., 2014). Some patients present with clinical immunodeficiency (van Eyck et al., 2014). Lee (2018) reviewed the basic biology of ADA2 and the various clinical manifestations of ADA2 deficiency, which include vasculitis affecting small- and medium-sized vessels causing early-onset stroke with subsequent neurologic signs, skin ulcerations resembling polyarteritis nodosa, peripheral neuropathy, immunodeficiency, autoimmune features, and hematologic abnormalities, including anemia and leukopenia. The clinical features are highly pleiotropic, and patients can present with only some of these main features. The hematologic manifestations of the disorder may sometimes resemble Diamond-Blackfan anemia (see, e.g., DBA1, 105650). (615688)

MalaCards based summary : Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome, also known as polyarteritis nodosa, childhood-onset, is related to cutaneous polyarteritis nodosa and sneddon syndrome. An important gene associated with Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome is ADA2 (Adenosine Deaminase 2). Affiliated tissues include skin, brain and kidney, and related phenotypes are hypertension and optic atrophy

Genetics Home Reference : 26 Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of various tissues. Signs and symptoms can begin anytime from early childhood to adulthood. The severity of the disorder also varies, even among affected individuals in the same family.

NIH Rare Diseases : 54 Adenosine Deaminase 2 deficiency is an inherited disorder causing inflammation in the body, especially in the tissues that make up the blood vessels (vasculitis). Though the severity and age of onset can vary, most patients begin having symptoms within the first decade of life. Symptoms may include the following: recurrent strokes, fevers, muscle pain, an enlarged liver or spleen, and areas of skin discoloration known as livedo racemosa or livedo reticularis. The strokes can affect physical or cognitive functioning. Other symptoms may include high blood pressure, aneurysms, immune system abnormalities, and necrosis of the fingers/toes. ADA2 deficiency is thought to be caused by mutations in the CECR1 gene and inherited in an autosomal recessive manner. Mutations in the CECR1 gene have also been associated with a familial form of Sneddon syndrome. Individuals with this form of Sneddon syndrome have been reported to have similar findings as those with ADA2 deficiency but with a later onset. 

UniProtKB/Swiss-Prot : 76 Polyarteritis nodosa: A systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly.

Wikipedia : 77 The Crawford expedition was a campaign on the western front of the American Revolutionary War, and one... more...

Related Diseases for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Diseases related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 338)
# Related Disease Score Top Affiliating Genes
1 cutaneous polyarteritis nodosa 12.8
2 sneddon syndrome 12.8
3 systemic polyarteritis nodosa 12.7
4 primary polyarteritis nodosa 12.6
5 secondary polyarteritis nodosa 12.5
6 single-organ polyarteritis nodosa 12.5
7 retinal vasculitis 11.7
8 autoimmune inner ear disease 11.7
9 eosinophilic granulomatosis with polyangiitis 11.2
10 churg-strauss syndrome 11.2
11 kawasaki disease 11.1
12 hepatitis 10.9
13 hepatitis b 10.8
14 microscopic polyangiitis 10.7
15 allergic angiitis 10.7
16 familial mediterranean fever 10.6
17 arthritis 10.5
18 hepatitis c 10.5
19 myocardial infarction 10.5
20 purpura 10.5
21 hepatitis c virus 10.4
22 glomerulonephritis 10.4
23 colitis 10.4
24 neuropathy 10.4
25 henoch-schoenlein purpura 10.4
26 ischemia 10.4
27 pneumonia 10.4
28 rheumatoid arthritis 10.4
29 temporal arteritis 10.4
30 myeloma, multiple 10.3
31 acute myocardial infarction 10.3
32 crohn's disease 10.3
33 leukemia 10.3
34 nephrosclerosis 10.3
35 peripheral vascular disease 10.3
36 ulcerative colitis 10.3
37 vascular disease 10.3
38 mononeuritis multiplex 10.3
39 optic nerve disease 10.3
40 hairy cell leukemia 10.3
41 amyloidosis 10.3
42 coronary artery aneurysm 10.3
43 psoriatic arthritis 10.2
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
45 cholecystitis 10.2
46 thrombophlebitis 10.2
47 periostitis 10.2
48 retroperitoneal fibrosis 10.2
49 neurofibromatosis, type ii 10.2
50 takayasu arteritis 10.2

Graphical network of the top 20 diseases related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:



Diseases related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome

Symptoms & Phenotypes for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Human phenotypes related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

33 (show all 35)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 occasional (7.5%) HP:0000822
2 optic atrophy 33 occasional (7.5%) HP:0000648
3 anemia 33 occasional (7.5%) HP:0001903
4 decreased antibody level in blood 33 occasional (7.5%) HP:0004313
5 leukocytosis 33 occasional (7.5%) HP:0001974
6 lupus anticoagulant 33 occasional (7.5%) HP:0025343
7 splenomegaly 33 very rare (1%) HP:0001744
8 hepatomegaly 33 very rare (1%) HP:0002240
9 portal hypertension 33 very rare (1%) HP:0001409
10 pancytopenia 33 very rare (1%) HP:0001876
11 elevated hepatic transaminase 33 very rare (1%) HP:0002910
12 thrombocytosis 33 very rare (1%) HP:0001894
13 stroke 33 very rare (1%) HP:0001297
14 esophageal varix 33 very rare (1%) HP:0002040
15 leukopenia 33 very rare (1%) HP:0001882
16 urticarial plaque 33 very rare (1%) HP:0030351
17 ataxia 33 HP:0001251
18 arthritis 33 HP:0001369
19 fever 33 HP:0001945
20 immunodeficiency 33 HP:0002721
21 abdominal pain 33 HP:0002027
22 peripheral neuropathy 33 HP:0009830
23 aphasia 33 HP:0002381
24 myalgia 33 HP:0003326
25 ophthalmoplegia 33 HP:0000602
26 agitation 33 HP:0000713
27 headache 33 HP:0002315
28 purpura 33 HP:0000979
29 vasculitis 33 HP:0002633
30 hemiplegia 33 HP:0002301
31 cutis marmorata 33 HP:0000965
32 raynaud phenomenon 33 HP:0030880
33 erythema nodosum 33 HP:0012219
34 panniculitis 33 HP:0012490
35 dilatation 33 HP:0002617

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
aphasia
agitation
headache
hemiplegia
more
Abdomen Spleen:
splenomegaly

Immunology:
immunodeficiency
leukocytosis
leukopenia
hypogammaglobulinemia (in some patients)

Head And Neck Eyes:
ophthalmoplegia
optic atrophy (1 patient)

Neurologic Peripheral Nervous System:
raynaud phenomenon
neuropathy

Abdomen Gastrointestinal:
gastrointestinal pain

Cardiovascular Vascular:
hypertension (in some patients)
vasculitis, small and medium vessels
stroke, ischemic
stroke, hemorrhagic
polyarteritis nodosa
more
Metabolic Features:
fever, recurrent

Genitourinary Kidneys:
renal artery aneurysms

Skeletal Feet:
ischemic digital necrosis

Skeletal:
arthritis

Abdomen Liver:
hepatomegaly

Muscle Soft Tissue:
myalgia

Skin Nails Hair Skin:
purpura
erythema nodosum
livedo reticularis
livedo racemosa
urticarial rash

Skin Nails Hair Skin Histology:
panniculitis
vasculitis in the reticular dermis
inflammatory infiltrate
interstitial neutrophils and macrophages
perivascular t lymphocytes
more
Hematology:
anemia (in some patients)
thrombocytosis (in some patients)
lupus anticoagulant (in some patients)

Laboratory Abnormalities:
abnormal liver enzymes
acute-phase reactants during fever

Head And Neck Face:
facial nerve palsies

Skeletal Hands:
ischemic digital necrosis

Clinical features from OMIM:

615688

Drugs & Therapeutics for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Search Clinical Trials , NIH Clinical Center for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome

Genetic Tests for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Anatomical Context for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

MalaCards organs/tissues related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

42
Skin, Brain, Kidney, Spleen, Neutrophil, T Cells, Eye

Publications for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Articles related to Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

(show all 11)
# Title Authors Year
1
Thirty Years of Followup in 3 Patients with Familial Polyarteritis Nodosa due to Adenosine Deaminase 2 Deficiency. ( 31092714 )
2019
2
Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity. ( 30565235 )
2019
3
Chronic leg ulcer revealing adenosine deaminase 2 deficiency: an atypical presentation. ( 30514670 )
2018
4
Adenosine Deaminase 2 Deficiency: More Than Monogenic Vasculitis. ( 28786259 )
2017
5
Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency. ( 28024309 )
2017
6
Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis. ( 26914925 )
2016
7
Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency. ( 27514238 )
2016
8
IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation. ( 26607704 )
2016
9
Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency. ( 25457153 )
2015
10
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. ( 24552285 )
2014
11
Early-onset stroke and vasculopathy associated with mutations in ADA2. ( 24552284 )
2014

Variations for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

UniProtKB/Swiss-Prot genetic disease variations for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 ADA2 p.Gly47Arg VAR_071137 rs202134424
2 ADA2 p.Gly47Val VAR_071138 rs200930463
3 ADA2 p.Ala109Asp VAR_071139 rs587777240
4 ADA2 p.His112Gln VAR_071140 rs587777241
5 ADA2 p.Arg169Gln VAR_071141 rs77563738
6 ADA2 p.Pro251Leu VAR_071142 rs148936893
7 ADA2 p.Trp264Ser VAR_071143 rs587777242
8 ADA2 p.Tyr453Cys VAR_071144 rs376785840

ClinVar genetic disease variations for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome:

6 (show top 50) (show all 90)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADA2 NM_001282225.1(ADA2): c.1358A> G (p.Tyr453Cys) single nucleotide variant Pathogenic rs376785840 GRCh37 Chromosome 22, 17662794: 17662794
2 ADA2 NM_001282225.1(ADA2): c.1358A> G (p.Tyr453Cys) single nucleotide variant Pathogenic rs376785840 GRCh38 Chromosome 22, 17181904: 17181904
3 ADA2 NM_001282225.1(ADA2): c.326C> A (p.Ala109Asp) single nucleotide variant Pathogenic rs587777240 GRCh37 Chromosome 22, 17688177: 17688177
4 ADA2 NM_001282225.1(ADA2): c.326C> A (p.Ala109Asp) single nucleotide variant Pathogenic rs587777240 GRCh38 Chromosome 22, 17207287: 17207287
5 ADA2 NM_001282225.1(ADA2): c.140G> C (p.Gly47Ala) single nucleotide variant Pathogenic rs200930463 GRCh37 Chromosome 22, 17690428: 17690428
6 ADA2 NM_001282225.1(ADA2): c.140G> C (p.Gly47Ala) single nucleotide variant Pathogenic rs200930463 GRCh38 Chromosome 22, 17209538: 17209538
7 ADA2 NM_001282225.1(ADA2): c.336C> G (p.His112Gln) single nucleotide variant Pathogenic rs587777241 GRCh37 Chromosome 22, 17688167: 17688167
8 ADA2 NM_001282225.1(ADA2): c.336C> G (p.His112Gln) single nucleotide variant Pathogenic rs587777241 GRCh38 Chromosome 22, 17207277: 17207277
9 ADA2 NM_001282225.1(ADA2): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic rs77563738 GRCh37 Chromosome 22, 17687997: 17687997
10 ADA2 NM_001282225.1(ADA2): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic rs77563738 GRCh38 Chromosome 22, 17207107: 17207107
11 ADA2 NM_001282228.1(ADA2): c.13G> A (p.Gly5Arg) single nucleotide variant Likely pathogenic rs202134424 GRCh37 Chromosome 22, 17690429: 17690429
12 ADA2 NM_001282228.1(ADA2): c.13G> A (p.Gly5Arg) single nucleotide variant Likely pathogenic rs202134424 GRCh38 Chromosome 22, 17209539: 17209539
13 ADA2 NM_001282225.1(ADA2): c.752C> T (p.Pro251Leu) single nucleotide variant Pathogenic rs148936893 GRCh38 Chromosome 22, 17203564: 17203564
14 ADA2 NM_001282225.1(ADA2): c.752C> T (p.Pro251Leu) single nucleotide variant Pathogenic rs148936893 GRCh37 Chromosome 22, 17684454: 17684454
15 ADA2 NM_001282225.1(ADA2): c.140G> T (p.Gly47Val) single nucleotide variant Pathogenic rs200930463 GRCh37 Chromosome 22, 17690428: 17690428
16 ADA2 NM_001282225.1(ADA2): c.140G> T (p.Gly47Val) single nucleotide variant Pathogenic rs200930463 GRCh38 Chromosome 22, 17209538: 17209538
17 ADA2 NM_001282225.1(ADA2): c.791G> C (p.Trp264Ser) single nucleotide variant Pathogenic rs587777242 GRCh37 Chromosome 22, 17672663: 17672663
18 ADA2 NM_001282225.1(ADA2): c.791G> C (p.Trp264Ser) single nucleotide variant Pathogenic rs587777242 GRCh38 Chromosome 22, 17191773: 17191773
19 ADA2 NM_001282225.1(ADA2): c.145C> T (p.Arg49Trp) single nucleotide variant Uncertain significance rs199614299 GRCh38 Chromosome 22, 17209533: 17209533
20 ADA2 NM_001282225.1(ADA2): c.145C> T (p.Arg49Trp) single nucleotide variant Uncertain significance rs199614299 GRCh37 Chromosome 22, 17690423: 17690423
21 ADA2 NM_001282225.1(ADA2): c.927G> A (p.Met309Ile) single nucleotide variant Likely benign rs146597836 GRCh38 Chromosome 22, 17189987: 17189987
22 ADA2 NM_001282225.1(ADA2): c.927G> A (p.Met309Ile) single nucleotide variant Likely benign rs146597836 GRCh37 Chromosome 22, 17670877: 17670877
23 ADA2 NM_001282225.1(ADA2): c.1045G> A (p.Val349Ile) single nucleotide variant Benign rs74317375 GRCh37 Chromosome 22, 17669265: 17669265
24 ADA2 NM_001282225.1(ADA2): c.1045G> A (p.Val349Ile) single nucleotide variant Benign rs74317375 GRCh38 Chromosome 22, 17188375: 17188375
25 ADA2 NM_001282225.1(ADA2): c.83T> C (p.Leu28Pro) single nucleotide variant Uncertain significance rs777404100 GRCh38 Chromosome 22, 17209595: 17209595
26 ADA2 NM_001282225.1(ADA2): c.83T> C (p.Leu28Pro) single nucleotide variant Uncertain significance rs777404100 GRCh37 Chromosome 22, 17690485: 17690485
27 ADA2 NM_001282225.1(ADA2): c.1531A> C (p.Lys511Gln) single nucleotide variant Uncertain significance rs535337577 GRCh37 Chromosome 22, 17662378: 17662378
28 ADA2 NM_001282225.1(ADA2): c.1531A> C (p.Lys511Gln) single nucleotide variant Uncertain significance rs535337577 GRCh38 Chromosome 22, 17181488: 17181488
29 ADA2 NM_001282225.1(ADA2): c.1071C> T (p.Ala357=) single nucleotide variant Likely benign rs144447953 GRCh37 Chromosome 22, 17669239: 17669239
30 ADA2 NM_001282225.1(ADA2): c.1071C> T (p.Ala357=) single nucleotide variant Likely benign rs144447953 GRCh38 Chromosome 22, 17188349: 17188349
31 ADA2 NM_001282225.1(ADA2): c.1386T> C (p.Ile462=) single nucleotide variant Likely benign rs373797039 GRCh37 Chromosome 22, 17662766: 17662766
32 ADA2 NM_001282225.1(ADA2): c.1386T> C (p.Ile462=) single nucleotide variant Likely benign rs373797039 GRCh38 Chromosome 22, 17181876: 17181876
33 ADA2 NM_001282225.1(ADA2): c.434A> C (p.Gln145Pro) single nucleotide variant Uncertain significance rs1437000359 GRCh37 Chromosome 22, 17688069: 17688069
34 ADA2 NM_001282225.1(ADA2): c.434A> C (p.Gln145Pro) single nucleotide variant Uncertain significance rs1437000359 GRCh38 Chromosome 22, 17207179: 17207179
35 ADA2 NM_001282225.1(ADA2): c.1269C> G (p.Asn423Lys) single nucleotide variant Likely pathogenic rs1226708979 GRCh37 Chromosome 22, 17662883: 17662883
36 ADA2 NM_001282225.1(ADA2): c.1269C> G (p.Asn423Lys) single nucleotide variant Likely pathogenic rs1226708979 GRCh38 Chromosome 22, 17181993: 17181993
37 ADA2 NM_001282225.1(ADA2): c.1299G> A (p.Gly433=) single nucleotide variant Likely benign rs370907740 GRCh38 Chromosome 22, 17181963: 17181963
38 ADA2 NM_001282225.1(ADA2): c.1299G> A (p.Gly433=) single nucleotide variant Likely benign rs370907740 GRCh37 Chromosome 22, 17662853: 17662853
39 ADA2 NM_001282225.1(ADA2): c.1172A> G (p.His391Arg) single nucleotide variant Uncertain significance rs749413678 GRCh37 Chromosome 22, 17663561: 17663561
40 ADA2 NM_001282225.1(ADA2): c.1172A> G (p.His391Arg) single nucleotide variant Uncertain significance rs749413678 GRCh38 Chromosome 22, 17182671: 17182671
41 ADA2 NM_001282225.1(ADA2): c.1203G> A (p.Lys401=) single nucleotide variant Likely benign rs960845017 GRCh37 Chromosome 22, 17663530: 17663530
42 ADA2 NM_001282225.1(ADA2): c.1203G> A (p.Lys401=) single nucleotide variant Likely benign rs960845017 GRCh38 Chromosome 22, 17182640: 17182640
43 ADA2 NM_001282225.1(ADA2): c.660C> T (p.Tyr220=) single nucleotide variant Benign rs2231487 GRCh37 Chromosome 22, 17684546: 17684546
44 ADA2 NM_001282225.1(ADA2): c.660C> T (p.Tyr220=) single nucleotide variant Benign rs2231487 GRCh38 Chromosome 22, 17203656: 17203656
45 ADA2 NM_001282225.1(ADA2): c.729G> A (p.Met243Ile) single nucleotide variant Uncertain significance rs151014930 GRCh37 Chromosome 22, 17684477: 17684477
46 ADA2 NM_001282225.1(ADA2): c.729G> A (p.Met243Ile) single nucleotide variant Uncertain significance rs151014930 GRCh38 Chromosome 22, 17203587: 17203587
47 ADA2 NM_001282225.1(ADA2): c.542+7A> G single nucleotide variant Benign rs149078840 GRCh38 Chromosome 22, 17207064: 17207064
48 ADA2 NM_001282225.1(ADA2): c.542+7A> G single nucleotide variant Benign rs149078840 GRCh37 Chromosome 22, 17687954: 17687954
49 ADA2 NM_001282225.1(ADA2): c.579G> A (p.Pro193=) single nucleotide variant Likely benign rs771793355 GRCh38 Chromosome 22, 17203737: 17203737
50 ADA2 NM_001282225.1(ADA2): c.579G> A (p.Pro193=) single nucleotide variant Likely benign rs771793355 GRCh37 Chromosome 22, 17684627: 17684627

Expression for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

Search GEO for disease gene expression data for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome.

Pathways for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

GO Terms for Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic...

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